Role of ClC-5 in the pathogenesis of hypercalciuria: recent insights from transgenic mouse models
Role of ClC-5 in the pathogenesis of hypercalciuria: recent insights from transgenic mouse models
复制标题
ClC-5 在高钙尿症发病机制中的作用：转基因小鼠模型的最新见解
DOI：
10.1097/00041552-200105000-00019
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发表时间：
2001
影响因子：
3.2
通讯作者：
A. Yu
中科院分区：
文献类型：
--
作者：
A. Yu
登特氏病是一种遗传性疾病，以高钙尿、低分子蛋白尿和Fanconi综合征为特征，由ClC-5失活突变引起，ClC-5是一种氯通道，表达于近端肾小管的内体。然而，ClC-5在高钙尿症和其他多种疾病表现的发病机制中的作用还很不清楚。讨论了过去一年报道的三种新的登特氏病转基因小鼠模型的新见解。
Dent's disease is an inherited disorder characterized by hypercalciuria, low molecular weight proteinuria, and Fanconi syndrome, which is caused by inactivating mutations in ClC-5, a chloride channel expressed in endosomes of the proximal renal tubule. The role of ClC-5 in the pathogenesis of the hypercalciuria and other myriad manifestations of this disease, however, is largely unknown. New insights from three new transgenic mouse models of Dent's disease, reported in the past year, are discussed.